脂质代谢性肌病16例临床病理分析  

Clinical and pathological analysis of myopathy with disorder of lipid metabolism in 16 cases TUERXUN Mohetaer

作　　者：莫合塔尔.吐尔逊 袁云[1,2] 陈清棠[1,2] 吴丽娟 

机构地区：[1]北京医科大学第一医院神经内科 [2]新疆维吾尔自治区人民医院神经内科

出　　处：《中华神经科杂志》1999年第1期31-34,共4页Chinese Journal of Neurology

摘　　要：目的探讨脂质代谢性肌病的病理，讨论此病与线粒体细胞病的关系。方法对１６例经肌肉活检证实的脂质代谢性肌病进行临床和肌肉病理检查，对油红Ｏ染色片进行形态计量分析。结果１６例病人的肌肉活检显示肌纤维内出现大量的脂肪滴，５例出现不整红边纤维。脂肪滴所占肌纤维的平均面积为（１７±６）％，肌纤维内脂肪滴颗粒平均数为２３７±３７。电镜下脂肪滴在肌纤维内和间质细胞内也明显增多。在８例病人可见线粒体内类结晶样包涵体。结论脂质代谢性肌病为全身系统性疾病。Objective To study the clinical and myopathological features in the patients with myopathy associated with disorder of lipid metabolism (DLM). Methods Muscle biopsies in 16 cases of DLM were analyzed quantitatively. Results All these cases of DLM with progressive or fluctuating weakness and fatigability, in which 8 cases showed exercise related muscle pain. EMG presented myogenic features in 15 cases and it was normal in only one case. Abnormal ECG or signs of fatty livers on sonography occurred in 6 cases. Muscle biopsies in all cases showed much lipid storage in the muscle fibers composing (17±6)% of the mean muscle fiber area [the mean normal area being (0.75±0.31)%]. The mean number of lipid granules in the muscle fibers was 237±37 on the cross sections of muscle fibers (the mean normal number being 90 ±54). Moreover, lipid storage was also found in the endothelial cells of the small vessels and fibroblasts were seen in a few cases. Paracrystaline inclusions in the mitochondria were detected in 8 cases. Five cases showed ragged red fibers. After steroid and L carnitine therapy the clinical symptoms in all the cases improved. Conclusions Our results suggested that myopathy with the disorder of lipid metabolism might be a systemic disease.

关 键 词：脂质累积病 线粒体肌病 临床病理 

分 类 号：R746.02[医药卫生—神经病学与精神病学]